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Article

Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis.

Prenatal diagnosis - 1 Oct 2023

Yang Yang, Zhang Wen, Wang Hao

Abstract excerpt

The MYH3 gene encodes the embryonic myosin heavy chain, which is crucial for the skeletal and muscular development. The MYH3 variants are associated with distal arthrogryposis type 2A (Freeman-Sheldon syndrome), distal arthrogryposis type 2B3 (Sheldon-Hall syndrome), CPSFS1A (Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A) and CPSFS1B, which have some shared characteristics and great...

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Identifiers

PMID: 37705160
DOI: 10.1002/pd.6440

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Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis.PMID 37705160Read ↗

Clinical and Molecular Heterogeneity of MYH3-Related Arthrogryposis with a Novel MYH3 Variant.Semantic proximity Read ↗

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.Semantic proximity Read ↗

A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B).Semantic proximity Read ↗

Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.Semantic proximity Read ↗

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.Semantic proximity Read ↗

Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.Semantic proximity Read ↗

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.Semantic proximity Read ↗

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.Semantic proximity Read ↗

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.Semantic proximity Read ↗

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3Semantic proximity Read ↗

Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.Semantic proximity Read ↗

A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum.Semantic proximity Read ↗

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